Department of Genetics, Doctoral School, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania;
Rom J Morphol Embryol. 2021 Jan-Mar;62(1):191-200. doi: 10.47162/RJME.62.1.18.
An estimated 12.5% of couples experiencing fertility problems and almost 12% of reproductive age women have turned to health services at least once due to infertility. First trimester miscarriage is the most common clinical manifestation of infertility associated with a genetic cause.
PATIENTS, MATERIALS AND METHODS: The scientific research was conducted at A.S. Medical Center in Bucharest, Romania, between January 2016 and December 2018, on a representative group of 1264 Caucasian patients diagnosed with infertility, from which the study group was selected, consisting of 273 patients who were further genetically investigated.
Chromosomal instability, identified in 14% of patients, has been encountered most frequently in women (7%), and least often in fetuses (2%), unlike other chromosomal anomalies, identified in 55% of patients, which were more common in fetuses (27%) and least frequently in men (9%). Recurrent pregnancy loss due to genetic causes was identified in 53% of cases, being determined by chromosomal instability in 16% of cases and by other chromosomal anomalies in 37% of cases. Infertility due to a genetic cause was identified in 83% of cases, being determined by chromosomal instability in 17% of cases and by other chromosomal anomalies encountered in 66% of cases. In genetic risk pregnancies in evolution, fetal chromosomal anomalies were detected in 94% of cases, the most frequent being aneuploidy and polyploidy. Cytogenetic studies carried out on tissue fragments taken from aborted products of conception revealed the presence of a genetic cause in 57% of cases, an abnormal chromosome number being the most common (36%). The analysis of microdeletions of the long arm of the Y chromosome indicated that 5.5% of men with infertility are affected by this condition.
Although genetic tests are considered complex and expensive laboratory investigations, they are crucial in identifying the etiology of over 40% of infertility cases associated with genetic factors, as well as in the correct and effective management of infertility.
据估计，有 12.5%的夫妇在生育方面存在问题，近 12%的育龄女性因不孕至少一次寻求过医疗服务。早期流产是与遗传原因相关的不孕的最常见临床表现。
患者、材料和方法：这项科学研究于 2016 年 1 月至 2018 年 12 月在罗马尼亚布加勒斯特的 A.S.医疗中心进行，研究对象为 1264 名被诊断为不孕的白种人患者，其中选择了研究组，由 273 名进一步进行基因研究的患者组成。
染色体不稳定在 14%的患者中最为常见（女性 7%，胎儿 2%），而其他染色体异常在 55%的患者中更为常见（胎儿 27%，男性 9%）。由于遗传原因导致的反复妊娠丢失在 53%的病例中被确定，其中 16%由染色体不稳定引起，37%由其他染色体异常引起。由于遗传原因导致的不孕在 83%的病例中被确定，其中 17%由染色体不稳定引起，66%由其他染色体异常引起。在遗传风险妊娠中，94%的病例中检测到胎儿染色体异常，最常见的是非整倍体和多倍体。对从流产胎儿组织片段中进行的细胞遗传学研究显示，57%的病例存在遗传原因，其中最常见的是染色体数量异常（36%）。对 Y 染色体长臂微缺失的分析表明，5.5%的不孕男性受此影响。
尽管遗传测试被认为是复杂和昂贵的实验室研究，但对于确定 40%以上与遗传因素相关的不孕病例的病因，以及正确有效地管理不孕具有至关重要的意义。
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